Rhabdomyosarcoma With Epithelioid Features And NSD3::FOXO1 Fusion: Evidence For Reconsideration Of Previously Reported FOXO1::FGFR1 Fusion.
Int J Surg Pathol
; 31(2): 213-220, 2023 Apr.
Article
em En
| MEDLINE
| ID: mdl-35502835
ABSTRACT
Epithelioid rhabdomyosarcoma is a rare rhabdomyosarcoma variant for which no diagnostic recurrent driver genetic events have been identified. Here we report a rapidly progressive and widely metastatic rhabdomyosarcoma with epithelioid features that arose in the thigh of a male infant. Conventional cytogenetics revealed a t(8;13)(p11.2;q14) translocation. Fluorescence in situ hybridization studies showed rearrangement of FOXO1 and amplification of its 3" end, and rearrangement of NSD3 and amplification of its 5` end. Next generation sequencing identified a NSD3FOXO1 fusion, which is a previously unreported gene fusion. We also review the historic report of a FOXO1FGFR1 fusion in a solid variant of alveolar rhabdomyosarcoma and propose that NSD3FOXO1 fusion may have been the more appropriate interpretation of the data presented in that report.
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Base de dados:
MEDLINE
Assunto principal:
Rabdomiossarcoma
/
Fatores de Transcrição Box Pareados
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article